K31N (p.Lys31Asn) variant of FANCA (Fanconi anemia group A protein)
K31N (p.Lys31Asn) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
K31N (p.Lys31Asn) variant details
- p.Lys31Asn
- rs759630319
- ExAC rs759630319
- TOPMed rs759630319
- gnomAD rs759630319
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.09
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)